Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.P171fs
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REEP1

NM_001371279.1:p.P171fs

Associated Papers

Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.

Ma X et al.

Frontiers in Neurology, 2020

Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.

Toft A et al.

Journal of Neurology, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."